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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular evolution 18 (1981), S. 1-8 
    ISSN: 1432-1432
    Keywords: Evolutionary distance ; Restriction maps ; Mitochondrial DNA ; Arbitrary G + C content
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary We develop a mathematical model for estimating evolutionary distance from restriction enzyme maps, which incorporates non-uniformity of the rate of base substitution into the theory and allows for an arbitrary G+C content at equilibrium. When the G+C content differs significantly from 1/2, the traditional model of base changes can introduce a systematic bias which depends upon the base composition of the restriction site. In addition, the accuracy of estimated evolutionary distance depends heavily upon the choice of restriction enzyme in that the expected number of sites is also affected. Monte Carlo experiments are conducted to check the validity of the present theoretical treatment and from which we draw several cautionary notes on estimation. An application is made to the available data on restriction enzyme maps of human mitochondrial DNA where the G+C content is approximately 1/3.
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular evolution 15 (1980), S. 13-20 
    ISSN: 1432-1432
    Keywords: Isozyme polymorphism ; Electrophoresis ; Population genetics ; Composite stepwise mutation model ; Neutral mutation hypothesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary As an extension of the conventional (“Ohta-Kimura”) stepwise mutation model, a new model is proposed. In this model, it is assumed that each charge state (“electromorph”) is represented byK alleles and that a mutation changes an allele either by one step in the charge space or to one of the other members of the identical electromorph. It is shown that the net genetic variability within a population is similar to that predicted by the infinite-allele model (“Kimura-Crow” model) rather than to that predicted by the stepwise mutation model, and theK-dependence of genetic variability is rather weak whenK ⩾ 2 and the effective population size is not much greater than the reciprocal of mutation rate. The results are compared with the recent observations at the xanthine dehydrogenase locus inDrosophila pseudoobscura.
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  • 3
    ISSN: 1432-1432
    Keywords: Hominoid phylogeny ; Mitochondrial DNA ; Nucleotide substitutions ; Molecular clock ; Phylogenetic trees ; Divergence times
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Molecular biology has resurrected C. Darwin and T.H. Huxley's question about the origin of humans, but the precise branching pattern and dating remain controversial. To settle this issue, a large amount of sequence information is required. We determined mitochondrial (mt) DNA sequences for five hominoids; pygmy and common chimpanzees, gorilla, orangutan, and siamang. The common region compared with the known human sequence is 4759 by long, encompassing genes for 11 transfer RNAs and 6 proteins. Because of the high substitution rates in mammalian mtDNA and an unprecedentedly large region compared, the sequence differences clearly indicate that the closest relatives to human are chimpanzees rather than gorilla. For dating the divergences of human, chimpanzee, and gorilla, we used only unsaturated parts of sequence differences in which the mtDNA genealogy is not obscured by multiple substitutions. The result suggests that gorilla branched off 7.7 ± 0.7 million years (Myr) ago and human 4.7 ± 0.5 Myr ago; the time difference between these divergences being as long as 3 Myr.
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular evolution 37 (1993), S. 240-244 
    ISSN: 1432-1432
    Keywords: Nucleotide diversity ; Coalescence time ; Average heterozygosity ; Subdivided populations ; Effective population size
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A formula for the effective population size for the finite island model of subdivided populations is derived. The formula indicates that the effective size can be substantially greater than the actual number of individuals in the entire population when the migration rate among subpopulations is small. It is shown that the mean nucleotide diversity, coalescence time, and heterozygosity for genes sampled from the entire population can be predicted fairly well from the theory for randomly mating populations if the effective population size for the finite island model is used.
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  • 5
    ISSN: 1432-1432
    Keywords: Hominoid mitochondrial DNA ; Nucleotide substitution rate ; Transition bias ; Base compositions ; Functional constraints ; Multiple hit corrections ; Transfer RNA
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Focusing on the synonymous substitution rate, we carried out detailed sequence analyses of hominoid mitochondrial (mt) DNAs of ca. 5-kb length. Owing to the outnumbered transitions and strong biases in the base compositions, synonymous substitutions in mtDNA reach rapidly a rather low saturation level. The extent of the compositional biases differs from gene to gene. Such changes in base compositions, even if small, can bring about considerable variation in observed synonymous differences and may result in the region-dependent estimate of the synonymous substitution rate. We demonstrate that such a region dependency is due to a failure to take proper account of heterogeneous compositional biases from gene to gene but that the actual synonymous substitution rate is rather uniform. The synonymous substitution rate thus estimated is 2.37 ± 0.11 × 10−8 per site per year and comparable to the overall rate for the noncoding region. On the other hand, the rate of nonsynonymous substitutions differs considerably from gene to gene, as expected under the neutral theory of molecular evolution. The lowest rate is 0.8 × 10−9 per site per year forCOI and the highest rate is 4.5 × 10−9 forATPase 8, the degree of functional constraints (measured by the ratio of the nonsynonymous to the synonymous substitution rate) being 0.03 and 0.19, respectively. Transfer RNA (tRNA) genes also show variability in the base contents and thus in the nucleotide differences. The average rate for 11 tRNAs contained in the 5-kb region is 3.9 × 10−9 per site per year. The nucleotide substitutions in the genome suggest that the transition rate is about 17 times faster than the transversion rate.
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular evolution 40 (1995), S. 347-347 
    ISSN: 1432-1432
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular evolution 48 (1999), S. 663-674 
    ISSN: 1432-1432
    Keywords: Key words: Major histocompatibility complex (Mhc) — Intron evolution — Primate origin — Mammalian evolution — Scandentia — Chiroptera —DRB genes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract. Introns are generally believed to evolve too rapidly and too erratically to be of much use in phylogenetic reconstructions. Few phylogenetically informative intron sequences are available, however, to ascertain the validity of this supposition. In the present study the supposition was tested on the example of the mammalian class II major histocompatibility complex (Mhc) genes of the DRB family. Since the Mhc genes evolve under balancing selection and are believed to recombine or rearrange frequently, the evolution of their introns could be expected to be particularly rapid and subject to scrambling. Sequences of intron 4 and 5 DRB genes were obtained from polymerase chain reaction-amplified fragments of genomic DNA from representatives of six eutherian orders—Primates, Scandentia, Chiroptera, Dermoptera, Lagomorpha, and Insectivora. Although short stretches of the introns have indeed proved to be unalignable, the bulk of the intron sequences from all six orders, spanning 〉85 million years (my) of evolution, could be aligned and used in a study of the tempo and mode of intron evolution. The analysis has revealed the Mhc introns to evolve at a rate similar to that of other genes and of synonymous sites of non-Mhc genes. No evidence of homogenization or large-scale scrambling of the intron sequences could be found. The Mhc introns apparently evolve largely by point mutations and insertions/deletions. The phylogenetic signals contained in the intron sequences could be used to identify Scandentia as the sister group of Primates, to support the existence of the Archonta superorder, and to confirm the monophyly of the Chiroptera.
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  • 8
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 18 (1998), S. 204-206 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Since the discovery of mouse histocom-patibility antigens and human leukocyte antigens (HLA) and their corresponding genes located in the major histocompatibility complex (MHC), the evolutionary mechanisms that generated their extraordinary diversity have been intensely debated1. Recently, the ...
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  • 9
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The populations that colonized Siberia diverged from one another in the Paleolithic and evolved in isolation until today. These populations are therefore a rich source of information about the conditions under which the initial divergence of modern humans occurred. In the present study we used the HLA system, first, to investigate the evolution of the human major histocompatibility complex (MHC) itself, and second, to reveal the relationships among Siberian populations. We determined allelic frequencies at five HLA class II loci (DRB1, DQA1, DQB1, DPA1, and DPB1) in seven Siberian populations (Ket, Evenk, Koryak, Chukchi, Nivkh, Udege, and Siberian Eskimo) by the combination of single-stranded conformational polymorphism and DNA sequencing analysis. We then used the gene frequency data to deduce the HLA class II haplotypes and their frequencies. Despite high polymorphism at four of the five loci, no new alleles could be detected. This finding is consistent with a conserved evolution of human class II MHC genes. We found a high number of HLA class II haplotypes in Siberian populations. More haplotypes have been found in Siberia than in any other population. Some of the haplotypes are shared with non-Siberian populations, but most of them are new, and some represent “forbidden” combinations of DQA1 and DQB1 alleles. We suggest that a set of “public” haplotypes was brought to Siberia with the colonizers but that most of the new haplotypes were generated in Siberia by recombination and are part of a haplotype pool that is turning over rapidly. The allelic frequencies at the DRB1 locus divide the Siberian populations into eastern and central Siberian branches; only the former shows a clear genealogical relationship to Amerinds.
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Immunogenetics 36 (1992), S. 126-129 
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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